Canonical Allele Identifier: CA115344
Gene: ANKK1 HGNC NCBI
ClinVar RCV:
RCV000002186
RCV000594759
RCV003633479
RCV003974790
ClinVar Variation:
2105
COSMIC:
COSM5617971
dbSNP:
1800497
gnomAD v2:
11:113270828 G / A
gnomAD v3:
11:113400106 G / A
gnomAD v4:
chr11-113400106-G-A
Joint Max Group AF 0.39572409 (AMR)
Genomes Max Group AF 0.3845119 (EAS)
Exomes Max Group AF 0.42279476 (AMR)
MyVariant.info:
GRCh38 chr11:g.113400106G>A
GRCh37 chr11:g.113270828G>A
Revel Score:
ENST00000303941 (MANE Select) 0.059
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.113400106G>A , CM000673.2:g.113400106G>A GRCh38
NC_000011.9:g.113270828G>A , CM000673.1:g.113270828G>A GRCh37
NC_000011.8:g.112776038G>A NCBI36
NG_012976.1:g.17316G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303941.4:c.2137G>A MANE Select ENSP00000306678.3:p.Glu713Lys
ENST00000303941.3:c.2137G>A ENSP00000306678.3:p.Glu713Lys
NM_178510.1:c.2137G>A NP_848605.1:p.Glu713Lys
XM_011542736.1:c.2170G>A XP_011541038.1:p.Glu724Lys
XM_011542737.1:c.2140G>A XP_011541039.1:p.Glu714Lys
XM_011542738.1:c.1948G>A XP_011541040.1:p.Glu650Lys
XM_011542736.2:c.2170G>A XP_011541038.1:p.Glu724Lys
XM_011542737.2:c.2140G>A XP_011541039.1:p.Glu714Lys
XM_011542738.2:c.1948G>A XP_011541040.1:p.Glu650Lys
XM_017017475.1:c.2167G>A XP_016872964.1:p.Glu723Lys
NM_178510.2:c.2137G>A MANE Select NP_848605.1:p.Glu713Lys
Search 100 bp 5'
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